AutismKB

Detail Information of AutCNV0002676

1. Sample AND Method Top
Ancestry ADI-R ADOS Diagnosis Family Individual Reference
Total Simplex Multiplex Control Affected Control Total
CaucasionASD - - - - 996 1287 2283 Pinto, 2010
Population: -
Platform: Illumina Infinium 1M SNP array
Method: SNP microarray, qPCR
Marker:-
Band:7q35
Evidences:maternal
Region: Chr7: 145841878 - 145895500
Gain/Loss:gain
2. Related Syndromic Genes Top
Abbreviations: AD, autosomal dominant; AR, autosomal recessive; ASD, autism spectrum disorder; ID, intellectual disability; XL, X linked.
Gene ID Gene Symbol Inheritance Evidence Level
AutG26047 CNTNAP2 AR (AD too?) Level 4: The disorder is a generally acknowledged ASD related disorder.
3. Related Non-syndromic Genes Top
Gene ID Gene Symbol Evidence Score Total Score
Low-Scale Association GWAS Low-Scale Single Gene Expression CNV Linkage
AutG26047 CNTNAP2 2 2 3 0 1 1 42

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  (e.g. NLGN4X)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 616
  • Genes: 3,075
  • SNPs/VNTRs: 3,386
  • CNVs: 4,617
  • Linkage Regions: 158
  • Last Update: 05/25/2012
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